The recent boom in microfluidics and combinatorial indexing strategies, combined with low
sequencing costs, has empowered single-cell sequencing technology. Thousands—or even …

Simulated genomes with pre-defined and random genomic variants can be very useful for
benchmarking genomic and bioinformatics analyses. Here we introduce simuG, a …

Mutations, recombinations, and genome duplications may promote genetic diversity and
trigger evolutionary processes. However, quantifying these events in diploid hybrid …

Motivation The past few years have seen the emergence of nanopore-based sequencing
technologies which interrogate single molecule of DNA and generate reads sequentially …

Background Somatic single nucleotide variants have gained increased attention because of
their role in cancer development and the widespread use of high-throughput sequencing …

Sequence content is heterogeneous throughout genomes. Therefore, genome-wide next-
generation sequencing (NGS) reads biased towards specific nucleotide profiles are affected …

Whole-exome and targeted sequencing are widely utilized both in translational cancer
genomics and in the setting of precision medicine. The benchmarking of computational …

Existing cancer benchmark data sets for human sequencing data use germline variants,
synthetic methods, or expensive validations, none of which are satisfactory for providing a …

Although genome sequencing has become increasingly popular, the simulation of individual
genomes is still important. This is because sequencing a large number of individual …

Tumour evolution results in progressive cancer phenotypes such as metastatic spread and
treatment resistance. To better treat cancers, we must characterize tumour evolution and the …